ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.917C>T (p.Ala306Val) (rs796052678)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187971 SCV000241574 likely pathogenic not provided 2016-08-01 criteria provided, single submitter clinical testing An A306V variant that is likely pathogenic has been identified in the KCNQ3 gene. The A306V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. Missense variants in nearby residues (D305G, W309R, G310V) have been reported in the Human Gene Mutation Database in association with KCNQ3-related disorder (Stenson et al., 2014), supporting the functional importance of this region of the protein. However, the A306V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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